☰

Phillip A Richmond - Publications

Affiliations: 
University of British Columbia, Vancouver, Vancouver, BC, Canada 
Area:
Bioinformatics, genomics, education, rare disease, gene regulation
Tree Info Similar researchers PubMed Report error

8 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Gustafson JA, Gibson SB, Damaraju N, Zalusky MP, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, et al. Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation. Medrxiv : the Preprint Server For Health Sciences. PMID 38496498 DOI: 10.1101/2024.03.05.24303792  0.393
2022 Dolzhenko E, Weisburd B, Ibañez K, Rajan-Babu IS, Anyansi C, Bennett MF, Billingsley K, Carroll A, Clamons S, Danzi MC, Deshpande V, Ding J, Fazal S, Halman A, Jadhav B, ... ... Richmond PA, et al. REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats. Genome Medicine. 14: 84. PMID 35948990 DOI: 10.1186/s13073-022-01085-z  0.31
2020 Richmond PA, Av-Shalom TV, Fornes O, Modi B, Elliott AM, Wasserman WW. GeneBreaker - Variant simulation to improve the diagnosis of Mendelian rare genetic diseases. Human Mutation. PMID 33368787 DOI: 10.1002/humu.24163  0.364
2020 Richmond PA, van der Kloet F, Vaz FM, Lin D, Uzozie A, Graham E, Kobor M, Mostafavi S, Moerland PD, Lange PF, van Kampen AHC, Wasserman WW, Engelen M, Kemp S, van Karnebeek CDM. Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy. Frontiers in Cell and Developmental Biology. 8: 520. PMID 32671069 DOI: 10.3389/Fcell.2020.00520  0.352
2020 Dolzhenko E, Bennett MF, Richmond PA, Trost B, Chen S, van Vugt JJFA, Nguyen C, Narzisi G, Gainullin VG, Gross AM, Lajoie BR, Taft RJ, Wasserman WW, Scherer SW, Veldink JH, et al. ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data. Genome Biology. 21: 102. PMID 32345345 DOI: 10.1186/S13059-020-02017-Z  0.355
2019 Webster TH, Couse M, Grande BM, Karlins E, Phung TN, Richmond PA, Whitford W, Wilson MA. Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data. Gigascience. 8. PMID 31289836 DOI: 10.1093/Gigascience/Giz074  0.362
2019 van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, et al. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in . The New England Journal of Medicine. 380: 1433-1441. PMID 30970188 DOI: 10.1056/Nejmoa1806627  0.399
2018 Fornes O, Gheorghe M, Richmond PA, Arenillas DJ, Wasserman WW, Mathelier A. MANTA2, update of the Mongo database for the analysis of transcription factor binding site alterations. Scientific Data. 5: 180141. PMID 30040077 DOI: 10.1038/Sdata.2018.141  0.384
Show low-probability matches.